ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916071897
Gene: ADAMTS13
HGNC
NCBI
Linked Data
ClinVar Variation Id:
242806
ClinVar RCV Id:
RCV000241706
RCV000275338
RCV002055012
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_620596.2:p.Gln448Glu
CA358426
NM_139027.6:c.1342C>G